An increasing number of genomic studies have yielded important discoveries about health and human behavior, but new research from Oxford University suggests that scientific advancement is limited by the lack of diversity. They show that people studied in genetic discovery research continue to be predominantly descendants of Europeans but also for the first time reveal that subjects are concentrated in a handful of countries – UK, USA and Iceland, and have specific demographic characteristics. The authors caution that this lack of diversity has potentially huge implications for the understanding and applications of genetic breakthroughs.
The study published in Biology of Communications contributes to a richer understanding of a multitude of facets that shape the genomic bias over time. The work analyzed about 4,000 scientific studies between 2005 and 2018, curated by the NHGRI-EBI GWAS Catalog, which contains all Genetic-Wide Association Studies (GWAS) to date.
These studies identified multiple genetic groups related to diseases such as type 2 diabetes, Alzheimer's disease, psychiatric disorders, physical, behavioral and psychological characteristics. The study examined the explosion in the number of people studied, number and strength of genetic association findings, and growth and variation in the number of results (or & # 39; phenotypes & # 39;) studied. He also looked at who was being studied in terms of ancestral antecedents, geographical location and demographics, but also who was conducting the research, including the networks and characteristics of the researchers themselves.
Despite impressive growth in sample size, number of traits and diseases studied and genetic findings, study results reveal that ancestral diversity has stagnated and that non-white groups are still underrepresented massively.
By extending research in this area, they show that this has varied considerably over time and that when groups of non-European ancestors are included, it is often only to "replicate" the results, as opposed to new fundamental genetic findings. Going beyond ancestral diversity, the authors estimate for the first time that 72% (often repeated) data come from individuals recruited in only three countries; United Kingdom (40%), USA (19%) and Iceland (12%). The data were not only subject to geographical concentration, but also presented a higher proportion than that of older people, women and, in some of the most used data, also subjects with higher socioeconomic level and better health.
Professor Melinda Mills (MBE FBA), lead author and professor of sociology at Nuffield, said: "The lack of ancestral diversity in genomic research has been a constant concern, but little attention has been paid to the geographic and demographic characteristics of people who are Genetic discoveries offer exciting medical possibilities, but without increasing the diversity of people and environments in which they live, the use and returns of such research are limited.The results are a complex interaction between genes and the environment – in other words, nature and breeding – but most of the findings were drawn from populations that are very similar with limited environmental variation. "
The authors also analyzed the major funders of this work (mainly UK and US sources) and revealed gender disparities in scientific authorship, estimating that up to 70 percent of the authors in the last "last author" post are men. They also provide evidence of a strongly articulated central network that revolves around data access providers such as researchers working as leading longitudinal cohort researchers and senior members of large biopharmaceutical companies. They provide a number of basic policy recommendations for publishers, funders, and policy makers. These include: prioritizing various types of diversity and strategies for monitoring diversity, warnings about the interpretation of genetic differences between ancestral groups, calls for the involvement of local stakeholders, and strategies for reforming incentive structures that interweave roles of ownership, data ownership and access to results.
Professor Mills adds, "We have been able to harness different types of data and bring them together in new ways to empirically demonstrate the inner workings of this important area of research for the first time. We hope that the 10 evidence-based policy recommendations will be harnessed to further increase the power of the ongoing genomic revolution. "
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